ISSN:0148-7299    

DOI:10.1002/ajmg.1320180302

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1984

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320180303

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1984

数据来源: WILEY

摘要:

AbstractData from two surveys performed in Brazil and involving 5,719 persons have been subdivided into three subsamples (one with cousin and sib controls). The totals led to estimates of B (abnormal equivalents per gamete) around 0.5, of A (the damage in a noninbred population) around 0.01–0.02, and of B/A from 14 to 77. No statistically significant difference was found between whites and nonwhites (mulattoes and Negroes). Inbreeding seems to disclose a predominantly mutational loa

ISSN:0148-7299    

DOI:10.1002/ajmg.1320180304

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1984

数据来源: WILEY

摘要:

AbstractData on a survey involving 10,458 liveborn white and nonwhite (mulattoes and Negroes) persons have been analyzed to estimate B, A, and B/A for anomalies in general, both including and excluding infant‐juvenile mortality. In both instances and race groups, the approximate estimates of those parameters were 0.5, 4.5, and 12. Inbreeding seems to disclose a predominantly mutational loa

ISSN:0148-7299    

DOI:10.1002/ajmg.1320180305

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1984

数据来源: WILEY

摘要:

AbstractA review of the international literature on the inbreeding effect on morbidity is presented. For anomalies in general, the estimates of B vary from 0.2 to 5.8, of A from 0.01 to 0.23, and of B/A from 3 to 77. The respective modal estimates are roughly around 0.5, 0.03, and 20. A review of the estimates for specific anomalies also shows a wide range of values: from B = 0.0008, A = 68 × 10−8, and B/A = 1,176 (for acheiropodia) to B = 2.9, A = 0.24, and B/A = 12 (for “incapacity for military service”). Some estimates of B/A lower than 12 have been obtained for congenital malformations in some countries. An overall analysis of the whole body of data suggests that most of the anomalies are either entirely or predominantly mutational in

ISSN:0148-7299    

DOI:10.1002/ajmg.1320180306

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1984

数据来源: WILEY

摘要:

AbstractThe excess risks of morbidity and precocious mortality for the offspring of incestuous matings and of matings of uncles‐nieces and aunts‐nephews, first cousins, first cousins once removed, and second cousins have been estimated as 32%, 18%, 9%, 5%, and 2.5%, respectively. These estimates are based on the theory of Morton et al [1956], assuming a damage (genetic and nongenetic) of 20% for the offspring of nonconsanguineous couples and two “deleterious” equivalents per gamete. Other possibilities (a damage of 40%; 2.5 deleterious equivalents per gamete), a partition of the total risk into prenatal and postnatal events, and some aspects of the inbreeding theory are also presented. Comments intended for persons interested in counseling are p

ISSN:0148-7299    

DOI:10.1002/ajmg.1320180307

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1984

数据来源: WILEY

摘要:

AbstractSpecific factors in a couple's history may influence the recurrence risk following repeated pregnancy loss (RPL). Couples with RPL were contacted several years following evaluation and information concerning subsequent pregnancies was obtained. Linear regression analysis was utilized to determine which factors in the history were significant predictors of pregnancy outcome following evaluation. A family history of RPL or a “genetic defect” was a highly significant predictor of subsequent unsuccessful pregnancies. Surgical, but not medical, treatment for RPL was a significant predictor of eventual successful outcome. The number of abortions prior to evaluation for RPL, presence of a liveborn child, maternal age at evaluation, and intercurrent infertility all failed to be significant predictors of pregnancy outcome after evaluat

ISSN:0148-7299    

DOI:10.1002/ajmg.1320180308

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1984

数据来源: WILEY

摘要:

AbstractHereditary pyropoikilocytosis is a rare type of congenital hemolytic anemia reported only in American black children. We report the first two occurrences in Saudi children. This is an autosomal‐recessive trait as proved by normal parents and two affected children. A pathogenetic and probably causal relationship with apparent elliptocytosis seems clear as three sibs have that conditio

ISSN:0148-7299    

DOI:10.1002/ajmg.1320180309

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1984

数据来源: WILEY

摘要:

AbstractOne hundred pairs of twins were encountered in 8,500 pregnancies having genetic amniocentesis. Only 5 of 27 (18.5%) pairs were recognized before the institution of routine ultrasonic examination, while 69 of 73 (94%) twin pairs were found after ultrasound use. Amniotic fluid was obtained from both sacs in 71 of the 73 (97%) identified twin gestations in which both twins were living at the time of amniocentesis.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320180310

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1984

数据来源: WILEY

摘要:

AbstractFifty‐five individuals at 50% risk of inheriting Huntington disease (HD) were given in‐depth structured interviews to survey attitudes toward use of a predictive test and to assess the possible impact of such a test on the number of gene carriers born. Three‐quarters of the sample said they would take predictive test. Given a positive predictive or prenatal test, the number of individuals choosing to have children is reduced from 80% of the total sample to 42%, or by almost one‐half. The large proportion of at risk individuals who say they would use a predictive test underscores the importance of developing guidelines for its administration prior to impleme

ISSN:0148-7299    

DOI:10.1002/ajmg.1320180311

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1984

数据来源: WILEY